The mitochondrial ND1 m.3337G>A mutation associated to multiple mitochondrial DNA deletions in a patient with Wolfram syndrome and cardiomyopathy

► We reported a patient with Wolfram syndrome and dilated cardiomyopathy. ► We detected the ND1 mitochondrial m.3337G>A mutation in 3 tested tissues (blood leukocytes, buccal mucosa and skeletal muscle). ► Long-range PCR amplification revealed the presence of multiple mitochondrial deletions in the skeletal muscle. ► The deletions remove several tRNA and protein-coding genes.